Our groups investigate the genetics and epidemiology of blood
counts with the aims of i) optimising blood donation policies and ii)
understanding the molecular mechanisms of blood formation. Our
ultimate goals are to develop personalized blood donation schedules
and to improve diagnosis and therapies for blood diseases.
We have completed genome wide association analyses involving
150,000 individuals and found 140 regions of the genome
implicated in regulating the formation of red cells and platelets. We
are currently sequencing these regions of the genome in 2,000
individuals with extreme red cell volume or platelet count
ascertained from the LifeLines cohort of 100,000 individuals, to
discover rare variants that affect the formation of these cells.
We seek access to the complete UK Biobank data to: 1) better
define ranges of blood parameters in the UK population, and with
unprecedented power, establish how demographic variables such as
age and gender affect them. This will be of particular interest for
our INTERVAL trial of 50,000 blood donors, which aims to optimise
blood donation frequency, by allowing us to better interpret the
effects of blood donation. 2) Assess the impact on blood parameters
of other variables collected by UK Biobank, particularly laboratory
and nutrition-related data. 3) Investigate blood parameters
measured by UK Biobank that are not routinely measured clinically
but that may be better reporters of blood formation such as
immature reticulocyte fraction. 3) Study the relationship between
blood indices, mortality and cancer. 4) Carry out genome wide
association studies, once UK Biobank genotypes become available,
of blood parameters to identify genetic determinants of blood formation.
Because of the large number of parameters we wish to study we
seek access to UK Biobank’s complete data on the full cohort but do
not need samples. As they become available we also seek access to
genotypes, mortality outcomes, repeat measurements and
biochemistry results.